The ITGA2B gene Polymorphism Associated with Glanzmannthrombasthenia in Sample of Iraqi Patients
Keywords:Glanzmannthrombasthenia, genotypes, revealed, bleeding time, frequencies
Case control study was used ,with healthy individual control(n=20)and Glanzmannthrombasthenia
patients(n=15). The diagnosis was depending on the clinical , hematological parameters and molecular
analysis.All patients were severe bleeding symptoms with normal Hemoglobin , and plateles count ,and
prolonged bleeding time.
It was successfully identified three SNP in ITGA2B gene the first SNP c.2653 T>G (rs5911)was presented
with three genotypes (TT, TG and GG).The genotype frequencies of TT in control group (60.0 vs. 90.0%)
show significant difference (p ?0.05) compared withGT patients . It was also noticed the frequency of
mutant allele (G) revealed a significant difference (p ? 0.01) in GT patients compared with controls group (
33.3 vs. 7.5%; OR = 6.17; EF = 0.44; 95% C.I. = 1.55 - 24.53)respectively .
The c.641T>C (rs137852911) was given with three genotypes (TT, TC and CC) . The frequencies of these
genotypes show non-significant difference (p ?0.05 between control and GT patient ,while the mutant allele
(C) show significant difference (p ? 0.01) in GT patientscompared with controls group (10 vs. 7.5%; OR =
1.37 ; EF = 0.11; 95% C.I. = 0.26 – 7.14 ).
The c.6438G>A showed three genotypes (GG, GA and AA) with two alleles (G and A).
The frequencies of these genotypes GG (60 vs. 95 %) , GA (33.3vs. 5.0%) and the third genotype (AA) 26.6
vs. 0%show significant difference (p ?0.05) between control and GT patient .It was also found the mutant
allele (A)revealeda significant difference (p ? 0.01) in GT patients compared with controls group (33.3 vs.
2.5%; OR = 11.87 ; EF = 0. 35 ; 95% C.I. = 1.41 – 99.80 )respectively
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